Publications by authors named "Estela R Gozalbo"

2Publications

A nationwide retrospective observational study of population newborn screening for medium-chain acyl-CoA dehydrogenase (MCAD) deficiency in the Netherlands.

Authors:
Emmalie A Jager Myrthe M Kuijpers Annet M Bosch Margot F Mulder Estela R Gozalbo Gepke Visser Maaike de Vries Monique Williams Hans R Waterham Francjan J van Spronsen Peter C J I Schielen Terry G J Derks

J Inherit Metab Dis 2019 09 16;42(5):890-897. Epub 2019 May 16.

Section of Metabolic Diseases, Beatrix Children's Hospital, University Medical Centre Groningen, University of Groningen, Groningen, The Netherlands.

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September 2019

Impact of newborn screening for very-long-chain acyl-CoA dehydrogenase deficiency on genetic, enzymatic, and clinical outcomes.

Authors:
Jeannette C Bleeker Irene L Kok Sacha Ferdinandusse W Ludo van der Pol Inge Cuppen Annet M Bosch Mirjam Langeveld Terry G J Derks Monique Williams Maaike de Vries Margot F Mulder Estela R Gozalbo Monique G M de Sain-van der Velden Alexander J Rennings Peter J C I Schielen Eugenie Dekkers Riekelt H Houtkooper Hans R Waterham Mia L Pras-Raves Ronald J A Wanders Peter M van Hasselt Marja Schoenmakers Frits A Wijburg Gepke Visser

J Inherit Metab Dis 2019 05 8;42(3):414-423. Epub 2019 Apr 8.

Department of Metabolic Diseases, Dutch Fatty Acid Oxidation Expertise Center, Wilhelmina Children's Hospital, University Medical Center Utrecht, Utrecht, The Netherlands.

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May 2019